RBFOX1 Gene (Protein Coding)

RNA Binding Fox-1 Homolog 1

GC16P005240
GIFtS:
40
The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the S... See more...

Aliases for RBFOX1 Gene

Aliases for RBFOX1 Gene

  • RNA Binding Fox-1 Homolog 1 2 3 5
  • Hexaribonucleotide-Binding Protein 1 3 4
  • RNA Binding Protein, Fox-1 Homolog 1 2 3
  • RNA Binding Protein Fox-1 Homolog 1 3 4
  • Ataxin 2-Binding Protein 1 2 3
  • Fox-1 Homolog A 3 4
  • HRNBP1 3 4
  • A2BP1 3 4
  • FOX1 3 4
  • Hexaribonucleotide Binding Protein 1 Isoform Alpha 3
  • Hexaribonucleotide Binding Protein 1 Isoform Beta 3
  • RNA Binding Protein, Fox-1 Homolog (C. Elegans) 1 2
  • Hexaribonucleotide Binding Protein 1 2
  • Fox-1-Like RNA-Binding Protein 1 3
  • Ataxin-2-Binding Protein 1 4
  • FOX-1 3
  • 2BP1 3
  • A2BP 4

External Ids for RBFOX1 Gene

Previous GeneCards Identifiers for RBFOX1 Gene

  • GC16P006033

Summaries for RBFOX1 Gene

Entrez Gene Summary for RBFOX1 Gene

  • The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

GeneCards Summary for RBFOX1 Gene

RBFOX1 (RNA Binding Fox-1 Homolog 1) is a Protein Coding gene. Diseases associated with RBFOX1 include Benign Epilepsy With Centrotemporal Spikes and Developmental Coordination Disorder. Among its related pathways are MECP2 and Associated Rett Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is RBFOX3.

UniProtKB/Swiss-Prot Summary for RBFOX1 Gene

  • RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis.

Gene Wiki entry for RBFOX1 Gene

Additional gene information for RBFOX1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBFOX1 Gene

Genomics for RBFOX1 Gene

GeneHancer (GH) Regulatory Elements for RBFOX1 Gene

Promoters and enhancers for RBFOX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16J006019 Promoter 0.9 EPDnew Ensembl 750 +779.9 779919 1.4 POLR2A EZH2 SIN3A CTCF RBFOX1 ENSG00000280000 piR-56341-065 NONHSAG018484.2
GH16J005239 Promoter 0.7 Ensembl 750.6 +0.3 319 1.4 CTCF REST ZNF143 LARP7 TRIM22 RNF2 IKZF1 SMARCA5 ZNF335 RB1 RBFOX1 NONHSAG018484.2 piR-61945-170
GH16J005979 Enhancer 0.3 Ensembl 11.4 +740.6 740619 1.2 TCF7L2 BCL6 RBFOX1 piR-56341-065 ENSG00000280000 NONHSAG018484.2
GH16J006231 Enhancer 0.2 FANTOM5 12.3 +991.9 991899 0.4 RBFOX1 piR-31937-082 piR-50443-135 NONHSAG018484.2
GH16J006043 Enhancer 0.2 Ensembl 11.9 +804.0 804019 1.2 RBFOX1 ENSG00000280000 ENSG00000257180 NONHSAG018484.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBFOX1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for RBFOX1 Gene

Genomic Locations for RBFOX1 Gene
chr16:5,239,782-7,713,340
(GRCh38/hg38)
Size:
2,473,559 bases
Orientation:
Plus strand
chr16:6,069,095-7,763,340
(GRCh37/hg19)
Size:
1,694,246 bases
Orientation:
Plus strand

Genomic View for RBFOX1 Gene

Genes around RBFOX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBFOX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBFOX1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RBFOX1 Gene

Proteins for RBFOX1 Gene

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  • Protein details for RBFOX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWB1-RFOX1_HUMAN
    Recommended name:
    RNA binding protein fox-1 homolog 1
    Protein Accession:
    Q9NWB1
    Secondary Accessions:
    • Q7Z7I7
    • Q8TAE3
    • Q8TAF2
    • Q8WYB2
    • Q9NS20

    Protein attributes for RBFOX1 Gene

    Size:
    397 amino acids
    Molecular mass:
    42784 Da
    Quaternary structure:
    • Binds to the C-terminus of ATXN2.
    SequenceCaution:
    • Sequence=AAF78291.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RBFOX1 Gene

    Alternative splice isoforms for RBFOX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBFOX1 Gene

Protein Expression for RBFOX1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RBFOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBFOX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RBFOX1 Gene

Domains & Families for RBFOX1 Gene

Gene Families for RBFOX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RBFOX1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RBFOX1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59671, highly similar to Ataxin-2-binding protein 1 (B7Z1U7_HUMAN)
  • A2BP1 protein (B7ZLH9_HUMAN)
  • Hexaribonucleotide-binding protein 1 (RFOX1_HUMAN)
genes like me logo Genes that share domains with RBFOX1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RBFOX1 Gene

Function for RBFOX1 Gene

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Molecular function for RBFOX1 Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis.

Phenotypes From GWAS Catalog for RBFOX1 Gene

Gene Ontology (GO) - Molecular Function for RBFOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,NAS 10814712
GO:0003729 mRNA binding IBA 21873635
GO:0005515 protein binding IPI 16713569
GO:0008022 protein C-terminus binding IPI 10814712
genes like me logo Genes that share ontologies with RBFOX1: view
genes like me logo Genes that share phenotypes with RBFOX1: view

Animal Models for RBFOX1 Gene

MGI Knock Outs for RBFOX1:
  • Rbfox1 Rbfox1<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBFOX1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RBFOX1 Gene

Localization for RBFOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBFOX1 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBFOX1 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
cytosol 3
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RBFOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
GO:0005737 cytoplasm IDA,IBA 10814712
GO:0005802 trans-Golgi network IDA 10814712
genes like me logo Genes that share ontologies with RBFOX1: view

Pathways & Interactions for RBFOX1 Gene

PathCards logo

SuperPathways for RBFOX1 Gene

genes like me logo Genes that share pathways with RBFOX1: view

Pathways by source for RBFOX1 Gene

1 BioSystems pathway for RBFOX1 Gene

Gene Ontology (GO) - Biological Process for RBFOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IBA 21873635
GO:0006397 mRNA processing IEA --
GO:0007399 nervous system development IBA 21873635
GO:0008380 RNA splicing IEA --
GO:0043484 regulation of RNA splicing IEA --
genes like me logo Genes that share ontologies with RBFOX1: view

No data available for SIGNOR curated interactions for RBFOX1 Gene

Drugs & Compounds for RBFOX1 Gene

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  1. Drug

(1) Drugs for RBFOX1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
antineoplastic agents Pharma 0
genes like me logo Genes that share compounds with RBFOX1: view

Transcripts for RBFOX1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for RBFOX1 Gene

(8) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(24) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBFOX1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RBFOX1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c
SP1: -
SP2: - -
SP3: - - -
SP4: - -
SP5: - - -
SP6:
SP7: - - -

Relevant External Links for RBFOX1 Gene

GeneLoc Exon Structure for
RBFOX1
ECgene alternative splicing isoforms for
RBFOX1

Expression for RBFOX1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RBFOX1 Gene

mRNA expression in normal human tissues for RBFOX1 Gene
mRNA expression by BioGPS for RBFOX1 GenemRNA expression by GTEx for RBFOX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RBFOX1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.5), Muscle - Skeletal (x5.5), Brain - Nucleus accumbens (basal ganglia) (x5.2), Brain - Putamen (basal ganglia) (x5.2), Brain - Caudate (basal ganglia) (x4.6), Brain - Cortex (x4.4), and Brain - Anterior cingulate cortex (BA24) (x4.4).

Protein differential expression in normal tissues from HIPED for RBFOX1 Gene

This gene is overexpressed in Bone (43.0), Heart (15.8), and Fetal Brain (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RBFOX1 Gene



Protein tissue co-expression partners for RBFOX1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RBFOX1 Gene:

RBFOX1

SOURCE GeneReport for Unigene cluster for RBFOX1 Gene:

Hs.459842

mRNA Expression by UniProt/SwissProt for RBFOX1 Gene:

Q9NWB1-RFOX1_HUMAN
Tissue specificity: Predominantly expressed in muscle and brain.

Evidence on tissue expression from TISSUES for RBFOX1 Gene

  • Nervous system(4.5)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with RBFOX1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RBFOX1 Gene

Orthologs for RBFOX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RBFOX1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
 Mammalia RBFOX1 33 32
  • 95.14 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Rbfox1 17 33 32
  • 91.53 (n)
rat
(Rattus norvegicus)
 Mammalia Rbfox1 32
  • 89.74 (n)
chimpanzee
(Pan troglodytes)
 Mammalia RBFOX1 33 32
  • 89.15 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia RBFOX1 33
  • 84 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia RBFOX1 33
  • 83 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia RBFOX1 33
  • 82 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves RBFOX1 33 32
  • 86.17 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia RBFOX1 33
  • 85 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia rbfox1 32
  • 81.32 (n)
zebrafish
(Danio rerio)
 Actinopterygii rbfox1 33 32
  • 81.49 (n)
 OneToOne
Dr.11261 32
fruit fly
(Drosophila melanogaster)
 Insecta A2bp1 33
  • 16 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea fox-1 33
  • 26 (a)
 ManyToMany
asd-1 33
  • 25 (a)
 ManyToMany
spn-4 33
  • 19 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.3750 33
  • 32 (a)
 OneToMany
Cin.1728 32
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.1728 32
Species where no ortholog for RBFOX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RBFOX1 Gene

ENSEMBL:
Gene Tree for RBFOX1 (if available)
TreeFam:
Gene Tree for RBFOX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RBFOX1: view image

Paralogs for RBFOX1 Gene

Paralogs for RBFOX1 Gene

(10) SIMAP similar genes for RBFOX1 Gene using alignment to 10 proteins:

  • RFOX1_HUMAN
  • B7Z1U7_HUMAN
  • F5H0M1_HUMAN
  • F8VR27_HUMAN
  • F8VRS4_HUMAN
  • F8VZG9_HUMAN
  • F8VZY7_HUMAN
  • H3BM62_HUMAN
  • I3L1D4_HUMAN
  • J3KNW3_HUMAN
genes like me logo Genes that share paralogs with RBFOX1: view

Variants for RBFOX1 Gene

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Sequence variations from dbSNP and Humsavar for RBFOX1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1060504699 likely-benign, Idiopathic generalized epilepsy 7,653,810(+) CG/TT intron_variant
rs1060504700 likely-benign, Idiopathic generalized epilepsy 7,653,915(+) G/A coding_sequence_variant, synonymous_variant
rs112339093 benign, Idiopathic generalized epilepsy 7,653,811(+) G/A/T intron_variant
rs113298071 benign, Idiopathic generalized epilepsy 7,518,256(+) C/A/G coding_sequence_variant, missense_variant
rs113881725 benign, Idiopathic generalized epilepsy 7,518,399(+) C/G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RBFOX1 Gene

Variant ID Type Subtype PubMed ID
dgv114e55 CNV gain 17911159
dgv1292n106 CNV deletion 24896259
dgv1293n106 CNV tandem duplication 24896259
dgv1294n106 CNV deletion 24896259
dgv2703n100 CNV loss 25217958
dgv2704n100 CNV gain 25217958
dgv2705n100 CNV gain 25217958
dgv2706n100 CNV loss 25217958
dgv2707n100 CNV loss 25217958
dgv2708n100 CNV loss 25217958
dgv2709n100 CNV loss 25217958
dgv2710n100 CNV loss 25217958
dgv2711n100 CNV loss 25217958
dgv2712n100 CNV loss 25217958
dgv2713n100 CNV gain 25217958
dgv2714n100 CNV loss 25217958
dgv2715n100 CNV loss 25217958
dgv2716n100 CNV loss 25217958
dgv2717n100 CNV loss 25217958
dgv2718n100 CNV loss 25217958
dgv328e201 CNV deletion 23290073
dgv338n27 CNV gain 19166990
dgv339n27 CNV loss 19166990
dgv459n67 CNV loss 20364138
dgv475e214 CNV gain 21293372
dgv476e214 CNV loss 21293372
dgv477e214 CNV gain 21293372
dgv478e199 CNV deletion 23128226
dgv4885n54 CNV loss 21841781
dgv4886n54 CNV loss 21841781
dgv4887n54 CNV loss 21841781
dgv4888n54 CNV loss 21841781
dgv4889n54 CNV gain 21841781
dgv4890n54 CNV loss 21841781
dgv4891n54 CNV gain 21841781
dgv4892n54 CNV gain 21841781
dgv4893n54 CNV loss 21841781
dgv4894n54 CNV loss 21841781
dgv4895n54 CNV loss 21841781
dgv4896n54 CNV loss 21841781
dgv4897n54 CNV loss 21841781
dgv4898n54 CNV loss 21841781
dgv4899n54 CNV loss 21841781
dgv782e212 CNV loss 25503493
dgv783e212 CNV gain 25503493
dgv784e212 CNV gain 25503493
dgv785e212 CNV loss 25503493
dgv786e212 CNV loss 25503493
dgv787e212 CNV loss 25503493
dgv788e212 CNV loss 25503493
dgv789e212 CNV loss 25503493
esv1002783 CNV gain 20482838
esv1009215 CNV deletion 20482838
esv1152754 CNV deletion 17803354
esv1283590 CNV deletion 17803354
esv1394865 CNV deletion 17803354
esv1442422 CNV deletion 17803354
esv1467747 CNV insertion 17803354
esv1617393 CNV deletion 17803354
esv1951064 CNV deletion 18987734
esv22255 CNV loss 19812545
esv2422241 CNV deletion 17116639
esv2436680 CNV insertion 19546169
esv2444502 CNV deletion 19546169
esv24834 CNV gain 19812545
esv2508614 CNV deletion 19546169
esv25304 CNV gain 19812545
esv2548153 CNV deletion 19546169
esv2581413 CNV insertion 19546169
esv2636026 CNV deletion 19546169
esv2657642 CNV deletion 23128226
esv2658293 CNV deletion 23128226
esv2658306 CNV deletion 23128226
esv2658834 CNV deletion 23128226
esv2660337 CNV deletion 23128226
esv2664038 CNV deletion 23128226
esv2664398 CNV deletion 23128226
esv2665479 CNV deletion 23128226
esv2668307 CNV deletion 23128226
esv2670124 CNV deletion 23128226
esv2670712 CNV deletion 23128226
esv2672802 CNV deletion 23128226
esv2673238 CNV deletion 23128226
esv2673633 CNV deletion 23128226
esv2674369 CNV deletion 23128226
esv2675030 CNV deletion 23128226
esv2678358 CNV deletion 23128226
esv2713920 CNV deletion 23290073
esv2713921 CNV deletion 23290073
esv2713922 CNV deletion 23290073
esv2713923 CNV deletion 23290073
esv2713924 CNV deletion 23290073
esv2750455 CNV deletion 23290073
esv2750456 CNV deletion 23290073
esv2750457 CNV deletion 23290073
esv2750458 CNV deletion 23290073
esv2750459 CNV deletion 23290073
esv2750460 CNV deletion 23290073
esv2750461 CNV deletion 23290073
esv2750463 CNV deletion 23290073
esv2750464 CNV deletion 23290073
esv2750465 CNV deletion 23290073
esv2750466 CNV deletion 23290073
esv2750467 CNV deletion 23290073
esv2750469 CNV deletion 23290073
esv2750471 CNV deletion 23290073
esv2750472 CNV deletion 23290073
esv275330 CNV gain+loss 21479260
esv275331 CNV loss 21479260
esv2760071 CNV loss 17122850
esv2760072 CNV gain+loss 17122850
esv2760073 CNV loss 17122850
esv2760407 CNV loss 21179565
esv2760408 CNV loss 21179565
esv2761895 CNV loss 21179565
esv2761896 CNV loss 21179565
esv2761897 CNV loss 21179565
esv2761898 CNV gain 21179565
esv2762077 CNV loss 21179565
esv28814 CNV gain 19812545
esv3196609 CNV deletion 24192839
esv3207123 CNV deletion 24192839
esv3303566 CNV mobile element insertion 20981092
esv3306393 CNV mobile element insertion 20981092
esv3308552 CNV mobile element insertion 20981092
esv3371029 CNV insertion 20981092
esv3381586 CNV insertion 20981092
esv3396345 CNV insertion 20981092
esv3400210 CNV insertion 20981092
esv3401925 CNV insertion 20981092
esv3411916 CNV insertion 20981092
esv3414620 CNV duplication 20981092
esv34160 CNV loss 18971310
esv3424300 CNV insertion 20981092
esv3424431 CNV duplication 20981092
esv34350 CNV loss 17911159
esv34485 CNV loss 17911159
esv3553064 CNV deletion 23714750
esv3553068 CNV deletion 23714750
esv3553070 CNV deletion 23714750
esv3553072 CNV deletion 23714750
esv3570187 CNV gain 25503493
esv3570220 CNV gain 25503493
esv3570254 CNV gain 25503493
esv3581954 CNV loss 25503493
esv3581958 CNV loss 25503493
esv3581959 CNV loss 25503493
esv3581961 CNV loss 25503493
esv3581962 CNV loss 25503493
esv3581963 CNV loss 25503493
esv3581964 CNV loss 25503493
esv3581966 CNV loss 25503493
esv3581967 CNV loss 25503493
esv3581968 CNV loss 25503493
esv3581969 CNV loss 25503493
esv3581970 CNV loss 25503493
esv3581972 CNV loss 25503493
esv3581973 CNV loss 25503493
esv3581974 CNV loss 25503493
esv3581975 CNV loss 25503493
esv3581976 CNV loss 25503493
esv3581978 CNV loss 25503493
esv3581979 CNV loss 25503493
esv3581980 CNV loss 25503493
esv3581981 CNV loss 25503493
esv3581983 CNV loss 25503493
esv3581984 CNV loss 25503493
esv3581985 CNV loss 25503493
esv3581988 CNV loss 25503493
esv3581994 CNV loss 25503493
esv3584697 CNV loss 24956385
esv3584700 CNV loss 24956385
esv3637738 CNV gain 21293372
esv3637739 CNV loss 21293372
esv3637740 CNV loss 21293372
esv3637741 CNV loss 21293372
esv3637743 CNV loss 21293372
esv3637744 CNV loss 21293372
esv3637745 CNV loss 21293372
esv3637746 CNV loss 21293372
esv3637748 CNV loss 21293372
esv3637749 CNV loss 21293372
esv3637750 CNV loss 21293372
esv3637751 CNV loss 21293372
esv3637752 CNV loss 21293372
esv3637753 CNV loss 21293372
esv3637756 CNV loss 21293372
esv3637758 CNV loss 21293372
esv3637759 CNV loss 21293372
esv3637760 CNV loss 21293372
esv3637762 CNV loss 21293372
esv3637763 CNV gain 21293372
esv3637764 CNV loss 21293372
esv3637765 CNV loss 21293372
esv3637766 CNV loss 21293372
esv3637767 CNV loss 21293372
esv3637768 CNV loss 21293372
esv3637770 CNV loss 21293372
esv3637772 CNV loss 21293372
esv3637773 CNV loss 21293372
esv3637774 CNV loss 21293372
esv3637775 CNV loss 21293372
esv3637776 CNV loss 21293372
esv3637777 CNV loss 21293372
esv3637778 CNV loss 21293372
esv3637779 CNV loss 21293372
esv3637780 CNV loss 21293372
esv3637781 CNV loss 21293372
esv3637782 CNV loss 21293372
esv3637783 CNV loss 21293372
esv3637784 CNV loss 21293372
esv3637785 CNV loss 21293372
esv3637786 CNV loss 21293372
esv3637787 CNV loss 21293372
esv3637788 CNV loss 21293372
esv3637789 CNV loss 21293372
esv3637790 CNV loss 21293372
esv3637791 CNV loss 21293372
esv3637792 CNV loss 21293372
esv3637793 CNV loss 21293372
esv3637795 CNV loss 21293372
esv3637796 CNV loss 21293372
esv3637797 CNV loss 21293372
esv3637798 CNV gain 21293372
esv3637800 CNV loss 21293372
esv3637803 CNV loss 21293372
esv3637804 CNV loss 21293372
esv3892768 CNV loss 25118596
esv3892769 CNV loss 25118596
esv3892771 CNV loss 25118596
esv3892772 CNV loss 25118596
esv3892773 CNV loss 25118596
esv3892774 CNV loss 25118596
esv3892775 CNV loss 25118596
esv3892776 CNV loss 25118596
esv3892777 CNV loss 25118596
esv3892778 CNV loss 25118596
esv3892779 CNV gain 25118596
esv3892780 CNV gain 25118596
esv988798 CNV loss 20482838
esv989383 CNV deletion 20482838
esv992566 CNV insertion 20482838
esv994369 CNV loss 20482838
nsv103531 CNV insertion 16902084
nsv1035791 CNV loss 25217958
nsv1036035 CNV loss 25217958
nsv1036100 CNV gain 25217958
nsv1036266 CNV loss 25217958
nsv1036277 CNV gain 25217958
nsv1036634 CNV gain 25217958
nsv103669 CNV deletion 16902084
nsv1036797 CNV gain 25217958
nsv103775 CNV deletion 16902084
nsv1038096 CNV gain 25217958
nsv1038219 CNV loss 25217958
nsv1041187 CNV loss 25217958
nsv1042167 CNV loss 25217958
nsv1043115 CNV loss 25217958
nsv1043337 CNV loss 25217958
nsv1043986 CNV loss 25217958
nsv1045325 CNV loss 25217958
nsv1045459 CNV loss 25217958
nsv1045579 CNV loss 25217958
nsv1045670 CNV loss 25217958
nsv1045888 CNV loss 25217958
nsv1046274 CNV loss 25217958
nsv1046454 CNV gain 25217958
nsv1046570 CNV gain 25217958
nsv1046873 CNV gain 25217958
nsv1050914 CNV loss 25217958
nsv1051414 CNV loss 25217958
nsv1051618 CNV loss 25217958
nsv1051845 CNV loss 25217958
nsv1051960 CNV loss 25217958
nsv1052338 CNV loss 25217958
nsv1052374 CNV loss 25217958
nsv1052728 CNV loss 25217958
nsv1052752 CNV loss 25217958
nsv1053258 CNV loss 25217958
nsv1053282 CNV loss 25217958
nsv1054185 CNV loss 25217958
nsv1054253 CNV loss 25217958
nsv1069909 CNV deletion 25765185
nsv1069910 CNV deletion 25765185
nsv1069911 CNV deletion 25765185
nsv1069912 CNV deletion 25765185
nsv1070318 CNV deletion 25765185
nsv1070319 CNV deletion 25765185
nsv1070741 CNV deletion 25765185
nsv1071258 CNV deletion 25765185
nsv1071259 CNV deletion 25765185
nsv1071260 CNV deletion 25765185
nsv1075909 CNV duplication 25765185
nsv1108980 CNV deletion 24896259
nsv1108981 CNV deletion 24896259
nsv1115898 CNV deletion 24896259
nsv1116110 CNV deletion 24896259
nsv1116111 CNV deletion 24896259
nsv1123005 CNV deletion 24896259
nsv1127466 CNV deletion 24896259
nsv1131106 CNV deletion 24896259
nsv1134493 CNV deletion 24896259
nsv1143808 CNV deletion 24896259
nsv1149659 CNV insertion 26484159
nsv1154091 CNV insertion 26484159
nsv1160335 CNV deletion 26073780
nsv1160336 CNV deletion 26073780
nsv1160337 CNV deletion 26073780
nsv1160338 CNV deletion 26073780
nsv1160339 CNV deletion 26073780
nsv1726 CNV insertion 18451855
nsv1727 CNV insertion 18451855
nsv1728 CNV deletion 18451855
nsv1729 CNV deletion 18451855
nsv437800 CNV loss 16327808
nsv457362 CNV loss 19166990
nsv457364 CNV gain 19166990
nsv457365 CNV loss 19166990
nsv457366 CNV loss 19166990
nsv457367 CNV loss 19166990
nsv457372 CNV loss 19166990
nsv457373 CNV loss 19166990
nsv457375 CNV loss 19166990
nsv457376 CNV loss 19166990
nsv457378 CNV loss 19166990
nsv457381 CNV loss 19166990
nsv457382 CNV loss 19166990
nsv457383 CNV loss 19166990
nsv457384 CNV loss 19166990
nsv457386 CNV loss 19166990
nsv471076 CNV loss 18288195
nsv471077 CNV gain 18288195
nsv471078 CNV loss 18288195
nsv474478 CNV novel sequence insertion 20440878
nsv474691 CNV novel sequence insertion 20440878
nsv507800 OTHER sequence alteration 20534489
nsv510411 OTHER sequence alteration 20534489
nsv515947 CNV loss 19592680
nsv517828 CNV loss 19592680
nsv518384 CNV gain 19592680
nsv518859 CNV loss 19592680
nsv519158 CNV loss 19592680
nsv519407 CNV loss 19592680
nsv520018 CNV loss 19592680
nsv520093 CNV loss 19592680
nsv520695 CNV loss 19592680
nsv520905 CNV loss 19592680
nsv521039 CNV loss 19592680
nsv521317 CNV loss 19592680
nsv521646 CNV loss 19592680
nsv522025 CNV loss 19592680
nsv522105 CNV gain 19592680
nsv522167 CNV loss 19592680
nsv522983 CNV loss 19592680
nsv523779 CNV loss 19592680
nsv524570 CNV gain 19592680
nsv524819 CNV loss 19592680
nsv525006 CNV loss 19592680
nsv525047 CNV loss 19592680
nsv525094 CNV loss 19592680
nsv525921 CNV loss 19592680
nsv526238 CNV loss 19592680
nsv526472 CNV gain 19592680
nsv526537 CNV loss 19592680
nsv527093 CNV loss 19592680
nsv527101 CNV loss 19592680
nsv527944 CNV loss 19592680
nsv528008 CNV loss 19592680
nsv528564 CNV gain 19592680
nsv528734 CNV loss 19592680
nsv528746 CNV loss 19592680
nsv571315 CNV loss 21841781
nsv571317 CNV gain 21841781
nsv571318 CNV loss 21841781
nsv571319 CNV loss 21841781
nsv571320 CNV loss 21841781
nsv571323 CNV loss 21841781
nsv571324 CNV loss 21841781
nsv571327 CNV loss 21841781
nsv571330 CNV loss 21841781
nsv571331 CNV loss 21841781
nsv571340 CNV gain 21841781
nsv571341 CNV loss 21841781
nsv571342 CNV loss 21841781
nsv571343 CNV gain 21841781
nsv571344 CNV loss 21841781
nsv571345 CNV loss 21841781
nsv571346 CNV loss 21841781
nsv571347 CNV loss 21841781
nsv571348 CNV loss 21841781
nsv571353 CNV loss 21841781
nsv571355 CNV loss 21841781
nsv571356 CNV loss 21841781
nsv571357 CNV loss 21841781
nsv571358 CNV loss 21841781
nsv571360 CNV loss 21841781
nsv571366 CNV loss 21841781
nsv571367 CNV loss 21841781
nsv571373 CNV loss 21841781
nsv571375 CNV loss 21841781
nsv571381 CNV loss 21841781
nsv571382 CNV loss 21841781
nsv571383 CNV loss 21841781
nsv571384 CNV gain 21841781
nsv571385 CNV loss 21841781
nsv571388 CNV loss 21841781
nsv571389 CNV loss 21841781
nsv571390 CNV loss 21841781
nsv571391 CNV loss 21841781
nsv571392 CNV loss 21841781
nsv571393 CNV loss 21841781
nsv571394 CNV loss 21841781
nsv571395 CNV loss 21841781
nsv571396 CNV loss 21841781
nsv571397 CNV gain 21841781
nsv817718 CNV loss 17921354
nsv817719 CNV loss 17921354
nsv821478 CNV duplication 20802225
nsv827535 CNV loss 20364138
nsv827536 CNV loss 20364138
nsv827537 CNV loss 20364138
nsv827538 CNV loss 20364138
nsv827539 CNV gain 20364138
nsv9343 CNV gain 18304495
nsv9344 CNV loss 18304495
nsv952911 CNV deletion 24416366
nsv952912 CNV duplication 24416366
nsv952913 CNV deletion 24416366
nsv954518 CNV insertion 24416366
nsv977107 CNV duplication 23825009

Variation tolerance for RBFOX1 Gene

Residual Variation Intolerance Score: 5.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBFOX1 Gene

Human Gene Mutation Database (HGMD)
RBFOX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBFOX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBFOX1 Gene

Disorders for RBFOX1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for RBFOX1 Gene - From: HGMD, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
benign epilepsy with centrotemporal spikes
  • centrotemporal epilepsy
developmental coordination disorder
  • motor skills disorders
spinocerebellar ataxia 2
  • sca2
atrial septal defect 1
  • asd1
wheat allergy
  • allergy to wheat
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RBFOX1

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RBFOX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBFOX1 Gene

Publications for RBFOX1 Gene

  1. A novel protein with RNA-binding motifs interacts with ataxin-2. (PMID: 10814712) Shibata H … Pulst SM (Human molecular genetics 2000) 2 3 4 23 56
  2. Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1. (PMID: 22001756) Khor CC … Simmons CP (Nature genetics 2011) 3 43 56
  3. Genomewide association study of movement-related adverse antipsychotic effects. (PMID: 19875103) Aberg K … van den Oord EJ (Biological psychiatry 2010) 3 43 56
  4. A2BP1 as a novel susceptible gene for primary biliary cirrhosis in Japanese patients. (PMID: 20153395) Joshita S … Shinshu PBC Study Group (Human immunology 2010) 3 23 56
  5. A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium. (PMID: 19508968) Zhai G … Spector TD (Journal of medical genetics 2009) 3 23 56

ExternalLinks

View latest publications for RBFOX1 gene in Mastermind

Products for RBFOX1 Gene

Sources for RBFOX1 Gene